ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)

dbSNP: rs2032459600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075753 SCV001241383 pathogenic Retinal dystrophy 2019-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002555918 SCV003524058 pathogenic not provided 2023-05-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 867170). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25211151). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1569*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
Genome-Nilou Lab RCV003455422 SCV004182209 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455422 SCV004200688 pathogenic Retinitis pigmentosa 39 2023-06-07 criteria provided, single submitter clinical testing

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